Pediatric Huntington Disease Brains Have Distinct Morphologic and Metabolic Traits: the RAREST-JHD Study.

ABSTRACT:

Background

Pediatric-onset Huntington's disease (POHD) exhibits a phenotype different from adult-onset HD (AOHD), with hypokinetic movement disorders (eg, rigidity, bradykinesia, and dystonia) rather than chorea typical of AOHD.

Objectives

The aim was to identify pathophysiology-based biomarkers specific to POHD (≥60 CAG repeats).

Methods

Simultaneous hybrid imaging using [¹⁸F]fluoro-2-deoxy-d-glucose (FDG) positron emission tomography plus magnetic resonance imaging (FDG-PET/MRI) and clinical assessment using standardized Huntington's disease (HD) scales were employed. Exploratory longitudinal analyses were also performed.

Results

Striatal volume loss was remarkable and more severe in POHD (n = 5) than in AOHD (n = 14). Widespread, significantly alt

SUBMITTER: Caligiuri ME 

PROVIDER: S-EPMC11647982 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature